Variant report

Variant	rs2305513
Chromosome Location	chr8:131127831-131127832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10091313	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10113410	0.80[JPT][hapmap]
rs1017281	0.81[CHB][hapmap]
rs10956514	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs1118887	0.81[CHB][hapmap];0.81[YRI][hapmap]
rs11780495	1.00[JPT][hapmap]
rs12677193	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269464	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1469288	0.81[CHB][hapmap]
rs17282526	0.93[ASW][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs17284725	0.81[CHB][hapmap]
rs1902016	1.00[JPT][hapmap]
rs2033059	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2045092	1.00[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs2114196	0.81[CHB][hapmap];0.81[YRI][hapmap]
rs2123870	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2395988	0.93[ASW][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs2554373	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2554374	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2670884	0.80[JPT][hapmap]
rs35256608	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733566	0.95[JPT][hapmap]
rs4733568	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs4733571	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs4733764	0.83[ASN][1000 genomes]
rs4733775	0.86[CHD][hapmap]
rs4733777	0.81[CHB][hapmap]
rs4733781	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs6470799	0.83[ASN][1000 genomes]
rs6470800	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6470802	0.85[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs6991975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992305	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs6996422	0.83[ASN][1000 genomes]
rs7012705	0.81[CHB][hapmap]
rs7015970	0.92[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7386417	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7460645	0.93[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs7816255	0.82[ASN][1000 genomes]
rs7826083	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7833007	0.85[CHB][hapmap]
rs7834461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs7837226	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs7839155	0.90[CHD][hapmap]
rs876575	0.81[CHB][hapmap]
rs966185	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:131114600-131137200	Strong transcription	A549	lung
6	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
11	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
15	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131117400-131137200	Strong transcription	NHLF	lung
17	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
18	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:131118000-131128600	Strong transcription	Fetal Stomach	stomach
20	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
23	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:131118200-131129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:131118400-131129200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:131118400-131131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
29	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
31	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
33	chr8:131118800-131129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:131118800-131131400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
36	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131119000-131130200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:131119000-131137400	Strong transcription	Osteobl	bone
39	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131119400-131128400	Strong transcription	Adipose Nuclei	Adipose
44	chr8:131119600-131128600	Strong transcription	Lung	lung
45	chr8:131119600-131128600	Strong transcription	Spleen	Spleen
46	chr8:131119600-131133800	Strong transcription	Fetal Intestine Large	intestine
47	chr8:131119600-131140800	Strong transcription	Liver	Liver
48	chr8:131119800-131130600	Strong transcription	Ovary	ovary
49	chr8:131120000-131129200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:131120000-131130800	Strong transcription	Dnd41	blood

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